ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.395del (p.Val132fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003783601 SCV004570832 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-06-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with porokeratosis (PMID: 23834120). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val132Glufs*27) in the MVK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MVK are known to be pathogenic (PMID: 16835861, 17105862, 23834120).

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